Since 1941, when Gregg first described the triad of deafness, cataracts and cardiac disease as the classical clinical manifestations of congenital rubella syndrome (CRS), strong efforts have been ...

We performed exome sequencing on the affected siblings and identified compound heterozygous pathogenic variants in VPS35L. These results link VPS35L dysfunction to a 3C/RSS-like congenital ...

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split spinal cord malformation type II, cattle (MONDO:1012824) neuromuscular disease, non-human animal (MONDO:1012983) neonatal/infantile-onset epilepsy syndrome with developmental and epileptic ...

From their first consultation with medical professionals, John and Jill Hart received conflicting opinions on what they ...

Diagnosis of 22q11.2 microdeletion syndrome should be considered in patients with malformation of the kidney. Dysmorphia, abnormal voice, cardiac malformations or hypoparathyroidism are clues to ...

While Zika has been reported in more than 90 countries, surprisingly little is known about what exactly drives Zika ...

We feel more blessed than we ever expected to be,” said mother Rachel Vargas, of Cranston, whose pregnancy doctors considered ...

After 30 weeks and three days of uncertainty and complications, the Cranston couple successfully delivered four identical ...

Infant mortality rates decreased from 1999 to 2022, but infant mortality from sudden unexpected infant death increased significantly.

Some are inherited genetically, though most vascular anomalies occur sporadically. Vascular anomalies are classified as either a malformation or tumor. We treat individuals of any age, from newborns ...

A Cranston family of four became a family of eight within three minutes last Friday when mom gave birth to four identical ...